Product Details

SNP ID
rs114035967
Assay Type
Functionally tested
NCBI dbSNP Submissions
16
Location
Chr.1:59990819 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGTGAATGAGGCGTCTGGCTCGTT[A/C]CTTCTCCAGAACTCCTGTGATTGGA
Phenotype
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
C1orf87 PubMed Links

Gene Details

Gene
C1orf87
Gene Name
chromosome 1 open reading frame 87
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_152377.2 1413 Nonsense Mutation GAA,TAA E499* NP_689590.1
XM_017000307.1 1413 Nonsense Mutation GAA,TAA E451* XP_016855796.1
XM_017000308.1 1413 Intron XP_016855797.1

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